Subject (CSHS# or author, age (years), sex) / Blood
phosphate / Blood FGF23* / Alkaline phosphatase / 25-OH-Vitamin D / 1,25-OH2-Vitamin D / TRP or TmP/GFR / Blood
calcium / PTH / Primary renal tubulopathy / Ref.
CSHS cohort / CSHS101 6/F / 2.6 mg/dl (4-5.4) / 445 pg/ml
(10-50) / 308 U/L
(96-297) / 29 ng/ml (33-100) / 8 pg/ml (24-86)  / TRP 72% / 2.4 mmol/L (2.15-2.55) / 15.9 pg/ml (15-65) / No / Labs also appear in (1) and Lim et al. (under review)
CSHS102 12/F / 2.3 mg/dl (3.3-5.4) / 279 RU/ml
(<150) / 366 U/L
(70-280) / 24ng/ml
(33-100) / NR / LOW / 9.7 mg/dl
(8.8-10.8) / 47 pg/ml
(8.5-72.5) / No
CSHS104 4/F / 1.5 mg/dl (3.9-6.5) / 795 RU/ml
(<150) / 1085 U/L (108-317) / 17 (10-80ng/ml) / 10 pg/ml (24-86) / TRP 80% / 2.1 mmol/L (2.15-2.55) / 88.5 pg/ml (16-87) / No
CSHS105 16/M / 2.6 mg/dl (2.8-4.6) / 74 pg/ml
(10-50) / 283 U/L
(52-171) / 27 (33-100ng/ml) / 69 pg/ml (24-86) / TRP 84% / 2.2 mmol/L (2.15-2.55) / 47 pg/ml (15-65) / No
CSHS106 13/F / 1.3 mg/dl (3.3-5.4) / 176 pg/ml
(10-50) / 1186 U/L (50-162) / 19 ng/ml (33-100) / 37 pg/ml (34-86) / TRP 79% / 2.3 mmol/L (2.15-2.55) / 52 pg/ml (15-65) / No
Subjects from the literature in whom FGF23 was assessed / Lim et al. CSHS 103 15/F / 1.5mg/dl (3.3-5.4) / 524 RU/ml
(<150) / 651 U/L (30-120) / LOW / NR / LOW / 9.3 mg/dl (9-10.5) / 90 pg/ml (10-60) / No / (1)
Narazaki et al. 5/F / 2.1mg/dL (3.8-5.8) / 123 pg/ml
(10-50) / 1935 U/L (330-880) / 16 pg/ml / 32 pg/ml (20-40) / TmP/GFR 1.9mg/dl
(4.7-5.6) / 9.9 mg/dL / 61 pg/mL (15-65) / NR / (2)
Sethi et al. 5/M / 2.1 mg/dl (3.5-5.5) / 1265 pg/ml
(10-50) / NR / 55nMol/L (>50) / NR / TmP/GFR 1.5mg/dl (2.9-4.6 mg/dl) / 10.9mg/dl (9-11) / 338 pg/ml (10-60) / No / (3)
Hoffman et al. 16/M / 1.9 mg/dl (3.5-5.2) / 530 RU/ml
(<150) / 534 U/L / 36 (10-55ng/nl) / 48 pg/ml (21-65) / TmP/GFR 1.6 mg/dl (3.2±0.3) / 9.8 (8.5-10.2) / 45 pg/ml (10-65) / No / (4)
Aggarwal et al. 10/M / 2.1 mg/dl (2.1-4.5) / 171RU/ml
(<150) / 2685 U/L (240-840) / 69ng/ml / NR / TRP 73% / 8.7(8.1-10.4) / 127.7 pg/ml / No / (5)
Avitan-Hersh et al. 14/M / 1.9 mg/dl (3.6-5) / 69pg/ml
(10-50) / NR / 7ng/ml (>30) / 21 pg/ml
(25-76) / TRP 96% / 9.8 (8.5-10.6) / 62ng/L(15-65) / No / (6)
Heike et al. 19/M / 2.2 mg/dl (4.3-5.7) / 215 RU/ml
(<150) / 1103 U/L (133-347) / 12 (13-67ng/ml) / 19 (27-71 pg/ml) / TmP/GFR 1.5 mg/dl (2.5-4.2) / 9.4 (9.4-10.6) / 51 (11-47 pg/ml) / No / (7)


Subject (author, age (years), sex) / Serum phosphate / Serum FGF23* / Alkaline phosphatase / 25-OH-Vitamin D / 1,25-OH2-Vitamin D / TRP or TmP/GFR / Serum calcium / PTH / Primary renal tubulopathy / Ref
Subjects from the literature in whom FGF23 was not assessed / Moreira et al. 1/F / 1.9mg/dl (3-6.5) / NR / 1192 U/L (54-280) / normal / NR / LOW / normal / normal / No / (8)
Kishida et al. 7/F / 2.1 mg/dl (4.5-6.5) / NR / 270 U/I (<116) / NR / NR / LOW / 9.8 mg/dl (8.5-10.5) / normal / No / (9)
Chou et al. 6/M / 1.5 mg/dl (3.7-5.6) / NR / 1041 U/L (145-420) / 8.94 ng/ml (9.7-41.7) / NR / TRP 80% / 9.5 mg/dl (8.8-10.8) / 94.6 pg/ml(10-65) / No / (10)
Chou et al. 22/M / 1.5 mg/dl (2.9-5.4) / NR / 437 U/L
(70-230) / NR / NR / TRP 91% / 9.7mg/dl / 35.3 (10-65) / No / (10)
Olivares et al. 2.5/F / 0.4mmol/L (0.9-1.75) / NR / 350 U/L
(37-200) / 70 nmol/L (37-200) / 21.6 pmol/L (35-105) / TRP 42% / 9.2 mg/dl (8.8-10.8) / NR / No / (11)
Ivker et al. 1/F / 0.87 mmol/L (1.54-2.62) / NR / 420 (U/L)
50-136) / normal / 36 nmol/L (36-144) / TRP 68.5% / normal / 28 ng/L (51-217) / NR / (12)
Oranje et al. 4/M / 0.7 mmol/L (1-1.8) / NR / 453 U/L
(80-225) / 100umol/L (31-129) / 46 nmol/L (40-140) / TRP 86% / normal / 2.2 pmol/L (0.8-15) / No / (13)
Tokatli et al. 5/M / 1.7 mg/dl / NR / 25 U/L / NR / NR / NR / 10.6 mg/dl / NR / NR / (14)
Stosiek et al. 20/M / 2.4 mg/dl (low-normal) / NR / 304 U/L (high) / 21.4 ng/ml (N) / 11pg/ml (10-16) / TRP 87% / 9.2 mg/dl / 5.3 pmol/L (normal) / NR / (15)
O'Neill et al. 3/F / 1.1 mmol/L / NR / 600 U/L / NR / NR / NR / 8.4 mg/dl / NR / NR / (16)
Skokby et al. 1/M / 0.54 mmol/L (1.24-1.84) / NR / 1472 U/L (250-1000) / NR / 91 pmol/L (24-158) / TRP 37% / normal / normal / No / (17)
Carey et al. 7/M / 2.6 mg/dl / NR / 832 IU/L / 34.4 ng/ml (15-80) / 4.3 pg/ml (21-74) / TmP/GFR 1.58 mg/dl (4-5.9) / 9.3 mg/dl / 0.9 ng/ml (0.4-1.5) / No / (18)
Carey et al. 23/F / 1.2 mg/dl / NR / 306 IU/L / 18 ng/ml (15-80) / 8.7 pg/ml (19-50) / TmP/GFR 0.64 mg/dl (2.5-4.2) / 8.8 mg/dl / 0.8 ng/nl (0.4-1.5) / No / (18)
Subject (author, age (years), sex) / Serum phosphate / Serum FGF23* / Alkaline phosphatase / 25-OH-Vitamin D / 1,25-OH2-Vitamin D / TRP or TmP/GFR / Serum calcium / PTH / Primary renal tubulopathy / Ref
Subjects from the literature in whom FGF23 was not assessed / Sugarman et al. 12/F / 2.5 mg/dl (3-5.5) / NR / 210 U/L (30-130) / NR / NR / NR / 8.9 mg/dl (9-11) / NR / moderate aminoaciduria / (19)
Moorjani et al. 8/F / 2.5 mg/dl / NR / 350 IU/L / NR / NR / NR / 9.5 mg/dl / NR / trace of amino acids / (20)
Aschinberg et al. 12/M / 1.3 mg/dl (2.5-5) / NR / 313 IU/L (20-124) / NR / NR / TRP 35% / 9.6 mg/dl (9-11.5) / 523 pg/ml (275-675) / No / (21)
Hosalkar et al. 7/M / 1.1 mg/dl (2.5-5) / NR / 340 IU (20-124) / 18 ng/ml (15-80) / 6 pg/ml (20-75) / TRP 40% / 8.9 mg/dl (9-11.5) / 0.8ng/ml (0.4-1.5) / NR / (22)
Hosalkar et al. 6/M / 1.3 mg/dl (2.5-5) / NR / 330 IU (20-124) / 12 ng/ml (15-80) / 9 pg/ml (20-75) / TRP 35% / 8.8 mg/dl(9-11.5) / 0.9ng/ml (0.4-1.5) / NR / (22)
Hosalkar et al. 3/M / 1.8mg/dl (2.5-5) / NR / 210 IU (20-124) / 14 ng/ml (15-80) / 11 pg/ml (20-75) / TRP 46% / 9.1 mg/dl (9-11.5) / 0.5ng/ml (0.4-1.5) / NR / (22)
Rustin et al. 35/M / Low/
normalized / NR / NR / NR / NR / NR / normal / normal / NR / (23)
Sukkhoja et al. 4/F / 0.6mmol/L (1.2-1.8) / NR / 2877 (169-372 U/L) / 61nmol/L (>50) / NR / TRP 75% / 9.2mg/dl / 12.5pmol/l (3.7-15.9) / NR / (24)
Shahgholi et al. newborn/F / 1.9mg/dl (3.5-6) / NR / 3300 U/L (45-300) / normal / NR / NR / normal / NR / NR / (25)
deMorais et al. 9/F / LOW / NR / 1630 U/L (175-420) / normal / NR / NR / normal / normal / NR / (26)
Feldelmann et al. 19/F / 0.43 mmol/L (1.11-1.5) / NR / 107 U/L (30-90) / 86ng/ml
(5-70) / 26 pg/nl (15-20) / TRP 51% / normal / 0.15ng/ml (<0.5) / normal / (27)
Shieh et al. 9/M / 1.3mg/dl / NR / NR / NR / NR / 67% / normal / 0.78ng/ml (0.22-0.66) / NR / (28)
Subject (author, age (years), sex) / Serum phosphate / Serum FGF23* / Alkaline phosphatase / 25-OH-Vitamin D / 1,25-OH2-Vitamin D / TRP or TmP/GFR / Serum calcium / PTH / Primary renal tubulopathy / Ref
Subjects from the literature in whom FGF23 was not assessed / Zutt et al. 15-52/F / low/ normalized / NR / high/ normalized / NR / NRA / low/ normalized / normal / NR / normal / (29)
Saraswat et al. 22/M / 2.4mg/dl (2.5-4) / NR / 46 U/dl (5-14) / NR / NR / phosphaturia / 7.8mg/dl (8-11) / normal / NR / (30)
Bouthors 52/M / 0.67mmol/l / NR / normal / NR / NR / 76% / normal / normal / NR / (31)
Gathwala et al. 6/M / 2.6mg/dl / NR / 1976 U/L / normal / NR / phosphate urinary excretion 700mg/d (100-300) / 8.7mg/dl / normal / normal / (32)
John et al. 7/M / 1.8mg/dl / NR / 982 U/L / NR / NR / TmP/GFR 0.5mg/dl / 9.6mg/dl / NR / normal / (33)
Klein et al. 2/M / 2.5mg/dl / NR / 32.6 ng/ml (normal) / 21.6pg/ml (normal) / 79% / normal / 35pg/ml (normal) / NR / (34)
Sanmanechai et al. 7/M / 0.77mmol/L (1.19-1.8) / NR / 630U/L(145-420) / 64% / 2.22mmol/L (2.2-2.7) / 8.38pmol/l (0.95-6.84) / normal / (35)
Subjects with no reported mineral anomalies or no labs reported / Cabanillas et al. 26/M / normal / normal / normal / NR / normal / NR / normal / normal / NR / (36)
Pierini et al. 9/M / 4.9mg/dl normal / NR / NR / NR / NR / NR / 9.5mg/dl (normal) / NR / NR / (37)
Kaplan et a. 14/F / NR / NR / NR / NR / NR / NR / normal / normal / NR / (38)
Grun 13/M / normal / NR / NR / NR / NR / NR / normal / NR / NR / (39)
Subject (CSHS# or author, age (years), sex / Serum phosphate / Serum FGF23* / Alkaline phosphatase / 25-OH-Vitamin D / Calcitriol / TRP or TmP/GFR / Serum calcium / PTH / Primary renal tubulopathy / Ref
Subjects with no reported mineral anomalies or no labs reported / Camacho et al. 18//M / NR / NR / 544 U/L (30-115) / NR / NR / NR / NR / NR / NR / (40)
Bouwes 19/F / NR / NR / NR / NR / NR / NR / NR / NR / NR / (41)
Vidaurri et al. x 3patients / NR / NR / NR / NR / NR / NR / NR / NR / NR / (42)
Yu e tal. 9/M / NR / NR / NR / NR / NR / NR / NR / NR / NR / (43)

Abbreviations: NR: Not reported, TRP: renal tubular reabsorption of phosphate; TmP/GFR: TubularmaximumPhosphateReabsorptionperGlomerularFiltrationRate.

Normal ranges for serum phosphate inour cohort are adjusted to the age of the subject.
Serum FGF23 values are displayed as intact (pg/ml) or total value (intact plus C-terminal fragments) RU/ml.

Normal ranges for biochemical parameters in subjects from the literature are displayed as reported.

Online Resource 2. Verification of Mutation Presence in Dysplastic-Appearing Bone in subject CSHS105


Online Resource 3. Sex and ethnicity in CSHS published reportsEx

GENDER
Male / 31/51 (61%)
Female / 20/51 (39%)
ETHNICITY
Caucasian / 22/51 (43%) / (7-9, 11-13, 17, 18, 21-23, 29, 31, 34, 36-41, 43, 44)
Asian / 8/51 (16%) / (2, 4, 19, 20, 22, 24, 28, 35)
South Asian / 5/51 (10%) / (3, 5, 30, 32, 33)
Middle Eastern / 5/51 (10%) / (6, 14, 18, 25, 27)
Latin American / 4/51 (8%) / (26, 42)
Black / 2/51 (4%) / CSHS104, (1, 22)
Unclear / 5/51 (10%) / (10, 15, 16, 45)

Online Resource 4. Literature CSHS cases of resolved/improved mineral abnormalities

Age at clinical improvement (years) / Indicator of decreased skeletal disease activity / Age at latest follow-up (years) / Reference
4 / Improvement of rickets and hypophosphatemia at age 4 / 39 / (45)
10 / Insufficiency fracture cessation since age 10 / 19 / (41)
12 / Resolution of hypophosphatemia / 13 / (21)
17 / Resolution of hypophosphatemia at age 17 / 35 / (23)
17 / Improved biochemical abnormalities. Increased BMD / 17 / (4)
18 / Improved response to oral treatment after age 18 / 18 / (9)
22 / Insufficiency fracture cessation since age 22 / 32 / (44)
22 / Improved biochemical profile in adulthood / 22 / (30)
N/A / Insufficiency fracture cessation / 26 / (36)
27? / Resolution of hypophosphatemia. Vitamin D stopped at age 27. Phosphorus status normal at age 52 / 52 / (29)

Online Resource5. Extra-ossesous/extra-cutaneous abnormalities in CSHS published reports

Tissues affected / Number of CSHS subjects / Findings
Neurological abnormalities / 21 /
  • Intellectual disability/delayed milestones (10 subjects): (4, 13, 18, 19, 27, 35, 40, 42, 46)
  • Bilateral/unilateral ventricular enlargement (7 subjects): (11, 13, 17, 19, 22, 40, 43)
  • Epilepsy/EEG abnormalities (5 subjects): (13, 18, 19, 44, 46)
  • Brainstem lipomas: (2 subjects): (36, 43)
  • Macrocephaly: (3 subjects): (37, 38, 43)
  • Brain atrophy (2 subjects):(11, 19)
  • Spastic hemiplegia (2 subjects): (19, 44)
  • Microcephaly (1 subject): (46)
  • Arachnoid cyst (2 subjects): (5, 11)
  • Partial third cranial nerve palsy (1 subject): (12).
  • Hypoplastic right occipital bone (1 subject): (11).
  • Dyslexia (1 subject): (43)
  • Nistagmus (1 subject): (36)
  • Hyperreflexia (1 subject):(36)
  • Interdigitation of gyri (1 subject): (33)
  • Brainstem tumor (non-lipoma) (1 subject):(28)

Ophtalmological abnormalities / 12 /
  • Coloboma (5 subjects): (37, 38, 41, 43, 46)
  • Limbal dermoid (4 subjects): (16, 19, 37, 43)
  • Strabismus: (3 subjects): (17, 29, 46)
  • Corneal opacity: (3 subjects): (29, 41, 43)
  • Dermoid cyst of the eyelid: (1 subject): (38)
  • Scleral pigmented spots (1 subjects): (26).
  • Ophtalmoplegia: (1 subject): (29)
  • Microcornea: (1 subject): (41)
  • Antimongoloid slant: (1 subject): (13)
  • Ptosis (1 subject): (13)
  • Corneal calcification (1 subject): (22)

Hemibodyassymetry / 12 /
  • Hemihypertrophy nevi side (4 subjects): (25, 30, 38, 39)
  • Hemihypoplasia nevi side: (5 subjects): (7, 17, 29, 34, 44)
  • Asymmetrical facies (2 subjects): (13): side non-specified plus asymmetric dentition, (6): tongue asymmetry (side non-specified)

Cardiovascular abnormalities / 4 /
  • Pericardial effusion (1 subjects): (16) (due to pulmonary hemangiomatosis).
  • Aortic coarctation (1 subjects): (37)
  • Heart valve abnormalities (1 subject): (22)(mild aortic regurgitation due to calcification of aortic valve),
  • Flat angioma (face)(1 subject): (39)
  • Lymphedema (1 subject):(37)

Precocious puberty / 4 /
  • Central precocious puberty (3 subjects): (12, 25, 43)
  • Not specified central/perif(1 subject): (29)

Thyroid abnormalities / 1 /
  • Thyroid medullary carcinoma (1 subject): (23): diagnosed at 15years, no family history)

Hyper IgE / 2 /
  • (3, 4)

Hematological abnormalities / 1 /
  • Severe anemia (unknown etiology) (1 subject): (47)

Basal cell carcinoma / 2 /
  • Diagnose over 50 years: (29, 31)

Hyperparathyroidism / 1 / (3)
Congenital rhabdomyosarcoma / 1 / (25)
Testicular abnormalities / 1 / (37)
Giant cell granuloma of the maxilla / 1 / (38)
Pheocromocytoma / 1 s / Detected incidentally at 54 (31)
Thymoma / 1 / HRAS mutation confirmed in timoma(6)
Bladder leiomyoma / 1 / (42)
NO OTHER FINDINGS REPORTED / 15* /
  • (5, 8-10, 15, 18, 21, 22, 24, 32, 42, 45)
  • *Not reported but obvious hemihypoplasia in images: (34)

Online Resource 6. Tumors identified in CSHS published reports

Benign neoplasms / Malignant neoplasms
  • Pheocromcytoma(31)
  • Thymoma (6)
  • Giant cell granuloma (38)
  • Bladder leiomyoma (42)
  • CNS lipoma (x 2) (36, 43)
  • Ocular dermoids (x 5) (16, 19, 37, 38, 43)
  • Syringocystoadenomapapilliferum (x 3)
(9, 11, 29)
  • Benign vascular tumors
-Pulmonary hemangiomas (16)
-Facial flat angioma (39) /
  • Congenital rhabdomyosarcoma (25)
  • Malignant CNS tumor (histology not revealed (28)
  • Medullary carcinoma of the thyroid (23)
  • Basal cell carcinoma (x 2): (29, 31)

1.Lim YH, Ovejero D, Sugarman JS, Deklotz CM, Maruri A, Eichenfield LF, et al.Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Hum Mol Genet. 2014;23(2):397-407.

2.Narazaki R, Ihara K, Namba N, Matsuzaki H, Ozono K, Hara T. Linear nevus sebaceous syndrome with hypophosphatemic rickets with elevated FGF-23. Pediatr Nephrol. 2012;27(5):861-3.

3.Sethi SK, Hari P, Bagga A. Elevated FGF-23 and parathormone in linear nevus sebaceous syndrome with resistant rickets. Pediatr Nephrol. 2010;25(8):1577-8.

4.Hoffman WH, Jueppner HW, Deyoung BR, O'Dorisio M S, Given KS. Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome. Am J Med Genet A. 2005;134(3):233-6.

5.Aggarwal S, Sharma NN, Singhania DK, Dhoot DK. Hypophosphatemic rickets associated with giant hairy nevus. Indian J Endocrinol Metab. 2013;17(Suppl 1):S188-90.

6.Avitan-Hersh E, Tatur S, Indelman M, Gepstein V, Shreter R, Hershkovitz D, et al.Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23. J Clin Endocrinol Metab. 2014;99(1):E132-6.

7.Heike CL, Cunningham ML, Steiner RD, Wenkert D, Hornung RL, Gruss JS, et al.Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis? Am J Med Genet A. 2005;139A(2):67-77.

8.Moreira AI, Ferreira G, Santos M, Baptista A, Ferreira EO. Epidermal nevus syndrome associated with hypophosphatemic rickets. Dermatol Online J. 2010;16(9):14.

9.Kishida ES, Muniz Silva MA, da Costa Pereira F, Sanches JA, Jr., Sotto MN. Epidermal nevus syndrome associated with adnexal tumors, spitz nevus, and hypophosphatemic vitamin D-resistant rickets. Pediatr Dermatol. 2005;22(1):48-54.

10.Chou YY, Chao SC, Shiue CN, Tsai WH, Lin SJ. Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus. J Pediatr Endocrinol Metab. 2005;18(1):93-5.

11.Olivares JL, Ramos FJ, Carapeto FJ, Bueno M. Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature. Eur J Pediatr. 1999;158(2):103-7.

12.Ivker R, Resnick SD, Skidmore RA. Hypophosphatemic vitamin D-resistant rickets, precocious puberty, and the epidermal nevus syndrome. Arch Dermatol. 1997;133(12):1557-61.

13.Oranje AP, Przyrembel H, Meradji M, Loonen MC, de Klerk JB. Solomon's epidermal nevus syndrome (type: linear nevus sebaceus) and hypophosphatemic vitamin D-resistant rickets. Arch Dermatol. 1994;130(9):1167-71.

14.Tokatli A, Coskun T, Ozalp I. Hypophosphatemic vitamin-D resistant rickets associated with epidermal nevus syndrome. A case report. Turk J Pediatr. 1997;39(2):247-51.

15.Stosiek N, Hornstein OP, Hiller D, Peters KP. Extensive linear epidermal nevus associated with hemangiomas of bones and vitamin-D-resistant rickets. Dermatology. 1994;189(3):278-82.

16.O'Neill EM. Linear sebaceous naevus syndrome with oncogenic rickets and diffuse pulmonary angiomatosis. J R Soc Med. 1993;86(3):177-8.

17.Skovby F, Svejgaard E, Moller J. Hypophosphatemic rickets in linear sebaceous nevus sequence. J Pediatr. 1987;111(6 Pt 1):855-7.

18.Carey DE, Drezner MK, Hamdan JA, Mange M, Ahmad MS, Mubarak S, et al.Hypophosphatemic rickets/osteomalacia in linear sebaceous nevus syndrome: a variant of tumor-induced osteomalacia. J Pediatr. 1986;109(6):994-1000.

19.Sugarman GI, Reed WB. Two unusual neurocutaneous disorders with facial cutaneous signs. Arch Neurol. 1969;21(3):242-7.

20.Moorjani R, Shaw DG. Feuerstein and Mims syndrome with resistant rickets. Pediatr Radiol. 1976;5(2):120-2.

21.Aschinberg LC, Solomon LM, Zeis PM, Justice P, Rosenthal IM. Vitamin D-resistant rickets associated with epidermal nevus syndrome: demonstration of a phosphaturic substance in the dermal lesions. J Pediatr. 1977;91(1):56-60.

22.Hosalkar HS, Jones DH, Offiah A, Hall C. Linear sebaceous naevus syndrome and resistant rickets. J Bone Joint Surg Br. 2003;85(4):578-83.

23.Rustin MH, Bunker CB, Gilkes JJ, Robinson TW, Dowd PM. Polyostotic fibrous dysplasia associated with extensive linear epidermal naevi. Clin Exp Dermatol. 1989;14(5):371-5.

24.Sukkhojaiwaratkul D, Mahachoklertwattana P, Poomthavorn P. Epidermal nevus syndrome with hypophosphatemic rickets in a young girl. J Paediatr Child Health. 2014;50(7):566-9.

25.Shahgholi E, Mollaian M, Haghshenas Z, Honarmand M. Congenital rhabdomyosarcoma, central precocious puberty, hemihypertrophy and hypophosphatemic rickets associated with epidermal nevus syndrome. J Pediatr Endocrinol Metab. 2011;24(11-12):1063-6.

26.de Morais OO, Costa LO, Shinzato DH, Wiziack Nde C, Hans-Filho G. Phacomatosis pigmentokeratotica--a patient with hypophosphatemic rickets. Skinmed. 2013;11(2):125-8.

27.Feldmann JL, Enjolras O, Penicaud JF, Menkes CJ. [Solomon's syndrome associated with fibrous dysplasia of bone and vitamin-resistant rickets]. Rev Rhum Mal Osteoartic. 1990;57(12):881-4.

28.Shieh CC, Wang PJ. Giant nevocellular nevi with rickets and brainstem tumor. Pediatr Neurol. 1991;7(6):452-4.

29.Zutt M, Strutz F, Happle R, Habenicht EM, Emmert S, Haenssle HA, et al.Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets. Dermatology. 2003;207(1):72-6.

30.Saraswat A, Dogra S, Bansali A, Kumar B. Phakomatosis pigmentokeratotica associated with hypophosphataemic vitamin D-resistant rickets: improvement in phosphate homeostasis after partial laser ablation. Br J Dermatol. 2003;148(5):1074-6.

31.Bouthors J, Vantyghem MC, Manouvrier-Hanu S, Soudan B, Proust E, Happle R, et al.Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. Br J Dermatol. 2006;155(1):225-6.

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